{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA372279634",
  "communityStandardTitle": [
    "NM_002467.6(MYC):c.217A>T (p.Thr73Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.128750680A>T?assembly=hg19",
        "id": "chr8:g.128750680A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.127738434A>T?assembly=hg38",
        "id": "chr8:g.127738434A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 127738434,
          "referenceAllele": "A",
          "start": 127738433
        }
      ],
      "hgvs": [
        "NC_000008.11:g.127738434A>T",
        "CM000670.2:g.127738434A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 128750680,
          "referenceAllele": "A",
          "start": 128750679
        }
      ],
      "hgvs": [
        "NC_000008.10:g.128750680A>T",
        "CM000670.1:g.128750680A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 128819862,
          "referenceAllele": "A",
          "start": 128819861
        }
      ],
      "hgvs": [
        "NC_000008.9:g.128819862A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7365,
          "referenceAllele": "A",
          "start": 7364
        }
      ],
      "hgvs": [
        "NG_007161.1:g.7365A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8001,
          "referenceAllele": "A",
          "start": 8000
        }
      ],
      "hgvs": [
        "NG_007161.2:g.8001A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616071"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000707113.1:c.172A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516742.1:p.Thr58Ser",
        "hgvsWellDefined": "ENSP00000516742.1:p.Thr58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "A",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000707114.1:c.172A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516743.1:p.Thr58Ser",
        "hgvsWellDefined": "ENSP00000516743.1:p.Thr58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "A",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000707115.1:c.172A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516744.1:p.Thr58Ser",
        "hgvsWellDefined": "ENSP00000516744.1:p.Thr58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "referenceAllele": "A",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000707116.1:c.172A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516745.1:p.Thr58Ser",
        "hgvsWellDefined": "ENSP00000516745.1:p.Thr58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 685,
          "referenceAllele": "A",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000517291.2:c.214A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429441.2:p.Thr72Ser",
        "hgvsWellDefined": "ENSP00000429441.2:p.Thr72Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 588,
          "referenceAllele": "A",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000524013.2:c.214A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430235.2:p.Thr72Ser",
        "hgvsWellDefined": "ENSP00000430235.2:p.Thr72Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "referenceAllele": "A",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000621592.8:c.217A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478887.2:p.Thr73Ser",
        "hgvsWellDefined": "ENSP00000478887.2:p.Thr73Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000621592.8:c.217A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002467.6:c.217A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478887.2:p.Thr73Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002458.2:p.Thr73Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "A",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000651626.1:c.-129A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499182.1:n.-129A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000652288.1:c.172A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499105.1:p.Thr58Ser",
        "hgvsWellDefined": "ENSP00000499105.1:p.Thr58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1377,
          "referenceAllele": "A",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000259523.10:c.172A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259523.6:p.Thr58Ser",
        "hgvsWellDefined": "ENSP00000259523.6:p.Thr58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "A",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000377970.6:c.172A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367207.3:p.Thr58Ser",
        "hgvsWellDefined": "ENSP00000367207.3:p.Thr58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 685,
          "referenceAllele": "A",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000517291.1:c.214A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429441.1:p.Thr72Ser",
        "hgvsWellDefined": "ENSP00000429441.1:p.Thr72Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "A",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000520751.1:c.138A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430226.1:p.Pro46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 588,
          "referenceAllele": "A",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000524013.1:c.214A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430235.1:p.Thr72Ser",
        "hgvsWellDefined": "ENSP00000430235.1:p.Thr72Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "referenceAllele": "A",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000613283.1:c.217A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479618.1:p.Thr73Ser",
        "hgvsWellDefined": "ENSP00000479618.1:p.Thr73Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "referenceAllele": "A",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "ENST00000621592.5:c.217A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478887.1:p.Thr73Ser",
        "hgvsWellDefined": "ENSP00000478887.1:p.Thr73Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405341"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074862183",
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "referenceAllele": "A",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "NM_002467.4:c.217A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002458.2:p.Thr73Ser",
        "hgvsWellDefined": "NP_002458.2:p.Thr73Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "referenceAllele": "A",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "NM_001354870.1:c.214A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341799.1:p.Thr72Ser",
        "hgvsWellDefined": "NP_001341799.1:p.Thr72Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074862183",
      "coordinates": [
        {
          "allele": "T",
          "end": 1377,
          "referenceAllele": "A",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "NM_002467.5:c.217A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002458.2:p.Thr73Ser",
        "hgvsWellDefined": "NP_002458.2:p.Thr73Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074862183",
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "referenceAllele": "A",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007553",
      "geneNCBI_id": 4609,
      "geneSymbol": "MYC",
      "hgvs": [
        "NM_002467.6:c.217A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002458.2:p.Thr73Ser",
        "hgvsWellDefined": "NP_002458.2:p.Thr73Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000621592.8:c.217A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002467.6:c.217A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478887.2:p.Thr73Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002458.2:p.Thr73Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}